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Maple syrup urine disease encephalopathy: a follow-up study in the acute stage using diffusion-weighted MRI
Jong Su Ha1, Taik-Kun Kim, Baik-Lin Eun
1Department of Diagnostic Radiology, Ansan Hospital, Korea University College of Medicine, #516 Kojan-Dong, 425-020 Ansan City, Kyungki-Do, Korea.
Abstract:
Neonatal maple syrup urine disease (MSUD) is associated with diffuse oedema and characteristic MSUD oedema. We present a newborn infant with two coexisting different types of oedema. The myelinated white matter showed a marked decrease in the water apparent diffusion coefficient (ADC) compatible with cytotoxic oedema. The unmyelinated white matter showed an increase in ADC, consistent with vasogenic-interstitial oedema. On follow-up studies, the cytotoxic oedema showed improvement, but the vasogenic-interstitial oedema progressed into brain atrophy.
Insights
Neonatal maple syrup urine disease (MSUD) can present with two distinct edema types. One type, cytotoxic edema, improved, while vasogenic-interstitial edema led to brain atrophy.
Area of Science:
- Neuroscience
- Biochemistry
- Pediatric Neurology
Background:
- Neonatal maple syrup urine disease (MSUD) is a rare metabolic disorder.
- MSUD is characterized by the inability to metabolize branched-chain amino acids.
- Edema is a known complication of neonatal MSUD.
Observation:
- A newborn infant with MSUD presented with two coexisting types of edema.
- Imaging revealed cytotoxic edema in myelinated white matter (decreased ADC).
- Vasogenic-interstitial edema was observed in unmyelinated white matter (increased ADC).
Findings:
- Cytotoxic edema demonstrated improvement on follow-up imaging.
- Vasogenic-interstitial edema progressed over time.
- The progression of vasogenic-interstitial edema resulted in brain atrophy.
Implications:
- This case highlights the complex edema patterns in neonatal MSUD.
- Differentiating edema types is crucial for prognosis and management.
- Understanding these patterns may inform future therapeutic strategies for MSUD.